Alagille Syndrome – a mum shares her daughter’s brave experiences.

Today I spoke to another local mum named Sian whose eight year old daughter Lacey has also experienced a form of cleft lip and palate which has been challenging and a learning curve for this young family as not all disabilities are visual. It’s great to learn about the various forms a cleft has and in this case it wasn’t Laceys face affected it was her soft palate, she was also born with a condition called Pulmonary artery Stenosis and has the condition Alagille Syndrome Below Sian answers her experience and education that she’s had over eight years.

Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. Bile ducts, also called hepatic ducts, are tubes that carry bile from the liver cells to the gallbladder and eventually drain into the small intestine. Bile is a liquid produced in the liver that serves two main functions: carrying toxins and waste products out of the body and helping the digestion of fats and the fat-soluble vitamins A, D, E and K. The decreased number of hepatic ducts causes bile to build up in the liver, leading to liver damage. Eventually the liver may stop working and a liver transplant is necessary. It’s a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton. The syndrome occurs in about one in every 70,000 birthsand is equally common in boys and girls and the symptoms of Alagille syndrome are usually seen in the first 2 years of life.

It is an autosomal dominant disorder, meaning it can be inherited from one parent who has the disorder. A child who has a parent with Alagille syndrome has a 50 percent chance of developing the disorder. Below I’ve asked some questions based on side affects of the condition – side effects can be cleft lip and/or palate, liver issues, heart problems, Ophthalmic features and skeletal abnormalities. Although the disease is present from birth, it may not be diagnosed until later in childhood, depending on the severity and to diagnose Alagille syndrome, your child’s physician will do a physical examination and some combination of the following tests: eye exam (to look for irregularities), spine x-ray (to look for the butterfly-shaped bones) chest exam (to check for a heart murmur) and liver biopsy (to examine a sample of liver tissue under a microscope). There is no cure for Alagille’s syndrome, but the symptoms can usually be managed without surgery. The main goal is to avoid complications of the disease.

In regards to Pulmonary stenosis it’s a birth defect of the heart (congenital) and it can happen when the pulmonary valve doesn’t develop as it should during the first 8 weeks of pregnancy. The pulmonary valve connects the right ventricle to the pulmonary artery. It normally has 3 flaps (leaflets) that work like a one-way door. This means they allow blood to flow from the right ventricle to the pulmonary artery, but not backward from the pulmonary artery to the right ventricle – above I’ve left a link for further details.
Untreated pulmonary valve stenosis can lead to a number of harmful and deadly complications. One example is right ventricular hypertrophy, or heart enlargement. This can weaken and permanently damage the heart. It may also cause irregular heartbeats. A lack of blood to your tissues can lead to cyanosis, which causes your skin to turn blue and affects your breathing.


In regards to issues formed from Alagille syndrome which was a cleft palate among others mentioned above I’d like to understand what interventions would enhance the educational outcomes for children with a cleft of the lip and/or palate?

Laceys cleft palate is caused by her having a rare genetic condition called Alagille Syndrome – people with this Syndrome can have cleft palate, heart problems, spinal/bone problems, eye problems, blood clotting issues and liver disease (the liver disease causes them to struggle with absorbing fats and nutrients from their food). If Lacey wasn’t born with her cleft then it would have been more difficult for us to have her diagnoses. With her being born with a cleft she was given a heart scan (children with clefts can also have holes in their hearts) this was when it was discovered she had pulminary artery stenosis… It did however take until Lacey was 2 for her full diagnosis. Her dad was unaware he also had alagille Syndrome until this point, although he was aware that he had liver problems from birth.

heart

Lacey had has two more surgerys non cleft related but to make her hearing more improved. She has what’s called a BAHA hearing aid which now fits on with a magnet. Before this she has the more generic hearing aid and then when they weren’t helping, a soft band hearing aid followed by a hard band version of the soft band. Having the surgery was a big deal for Lacey because she felt as though her bands made her stand out from her peers. Also her quality of hearing has improved since using the magnet.

What types of psychological intervention (individual therapy, community or school based) and at what time (from diagnosis to adulthood) are most helpful for patients with a cleft of the lip and/or palate and their families?

Lacey has never been treated differently because of her actual cleft palate as it only effected her soft palate and was never visible to anyone who didn’t know. We have always discussed how she was born special and its nothing to be ashamed of, however, Lacey has struggles with the hearing side of things and the fact that she is ‘different’ from her peers as she has to wear a hearing aid and has had to deal with bullying because of it. We have a worry monster for her so when she feels down or worried about anything she puts it in the monster and he eats away her worries and we have always tought her to be open and honest about her feelings, although she can be very withdrawn and has a tendency to keep things bottled up. I don’t feel like there is enough emotional support given to children who are ‘different’ in schools etc to help them to over come insecurities and not enough education about children with cleft palate or hearing issues etc for other children that may struggle to understand why a child may look different or have extra needs.

What are the educational, employment and personal (eg relationships) outcomes for individuals with a cleft of the lip and/or palate during childhood, adolescence and in the long term?

I think again eduction is key. If you educate children about the needs of others then they are less likely to bully or ask questions that could possibly make a child who is sensitive about it all. Also again more support in schools for those children who may be going through a hard time could make a big difference. Teachers need to be aware about children who have glue ear and how they can be fine with hearing one week but then struggle another so their needs may vary. Also for children like Lacey who need extra support when given instructions etc as she is profoundly deaf in her left ear and moderately deaf in her right. People need to understand how just because a child wears a hearing aid it doesn’t mean they can hear like a person who doesn’t have any issues with hearing. Hearing aids don’t work in loud/noisey environments or in rooms with high ceilings etc.

I think parents should be introduced to ‘the teacher of the deaf’ straight away so when a child starts nursery ideally. This can help teachers understand and parents to understand how best to help them in an educational setting.

What is the best protocol for primary repair (surgery) of both the lip and palate, including technique/timing and sequence? In individuals with a cleft of the lip and/or palate when is the most effective age to begin speech therapy?

We were told that cleft palate repair is based more on weight then age. Alot of babies have their soft palate repaired at a younger age then Lacey had hers done. Lacey has Agille Syndrome – this effects her ability to gain weight.

alagille syndrome

She had to wait until she was eleven months old for her first operation but this was not successful and her second operation was done a couple of months before her second birthday!

We were given advice from the speech therapist when Lacey was just three months old and were advised to start with it as soon as she started babbling and was shown how to teach her to bring her tongue forward when pronouncing certain words and we were shown how to move our mouth (over exaggerate certain mouth movements) to help with her speech. We went out and bought flash cards with words and letters and from four months old (when she started babbling) and would also go through them all daily. Lacey has never had to have speech therapy in hospital etc and I believe it is down to starting so early – Lacey was unable to prenounce sounds like D until her second repair was done.

What is the best treatment for otitis media with effusion (glue ear) in individuals with a cleft of the lip and/or palate?

Lacey is seen every three months to have her ears suctioned. This helps get rid of the gooey stuff in her ears that causes so many ear infections but also has ear moulds specially made to use when in the bath to prevent her ears from getting wet also. She struggles with alot of ear infections despite all of this though and has to have regular trips to the gp to get treatment. We have found ear drops to be the most effective thing for her.

ear

We were advised against using a dummy with Lacey as this can interfere with the healing process after surgery. Lacey however had to wear splints after as she was a thumb sucker. Before surgery you are given a leaflet explaining what to do about eating and drinking. It’s pretty easy to follow but staff are always helpful if any questions arise.

What is the impact of having a baby born with physical issues with maternal attachment?

Strangely enough I didn’t get this with Lacey but instead got a fire in my belly and an instant feeling that I need to protect this beautiful little girl. She brought out a strength I didn’t know I had. She is and always will be my little warrior.


It’s amazing to learn about all physical as well as mental issues in both adults and children and I’m glad Sian was able to share her experiences.

22 thoughts on “Alagille Syndrome – a mum shares her daughter’s brave experiences.

Add yours

  1. Thank you for this informative post – I’ve never hear of this disease before but now I do. Your little girl is so brave with everything she has gone through in her little life and I wish her all the best #itsok

    Liked by 1 person

  2. My granddaughter has special & unique abilities too, from a random genetic deletion, she uses sign language & she is so amazing…
    She was also born with a bi lateral cleft palate, short palate, low muscle tone, mild Pierre Robins Syndrome, low fine motor control…..& many other things…her Mama & family are amazing too!

    You’re welcome to drop by for a cuppa anytime!
    Jennifer

    Liked by 1 person

  3. This is a very informative post as well as giving us a real insight into Lacey’s challenges and life so far. The worry monster sounds a very good idea for children dealing with difficulties. Thanks so much for sharing and wishing Lacey well for the future. xx #thesatsesh

    Liked by 1 person

  4. Oh I love the worry monster! Stealing that.

    My daughter was born a bit different too due to amniotic bands and I totally agree with your last paragraph. It was tough while we awaited diagnosis but it was never a question of loving her… #dreamteam

    Liked by 1 person

  5. Oh your last paragraph about the maternal protection brought a lump to my throat. My eldest spent a lot of time in hospital as a baby and I felt exactly the same way as you. She looked so small and helpless and I knew instantly that I needed to be her champion, her advocate, so even though there were long periods of time where I couldn’t pick her up or cuddle her, the bond was still strong and deep.

    I’m glad that your daughter’s operations have gone well and I think you’re right that there needs to be more support for children who are different. This is something we’re dealing with at the moment too as mine is now 7 and starting to ask more questions. #blogcrush

    Liked by 1 person

  6. What a brave girl you have abs what an informative post. I think it’s amazing how you really have taken the effort to learn as much as you can and pass on the info. I’m sure many will benefit from your info. #DreamTeam

    Liked by 2 people

  7. Wow. Who would have thought that was all connected. I can not imagine what your little girl has gone through. She is a brave one! #thatsatsesh

    Liked by 1 person

  8. What an interesting article. My oldest has Dandy Walker syndrome and has an arched soft palate along with many heart and brain defects. It has been a very long journey, but he is 28 now and doing very well. They didn’t think he would survive the first two years of life and here he is living a full adapted life. He will probably live at home until we can’t care for him anymore and then move to a group home, but he enjoys his days and is a delight to our family.
    Blessings, Dawn

    Liked by 1 person

  9. I’ve not heard of this before, what a lot for a little one to go through! At my children’s school there’s lots of children with BAHA’s and they’re really good at teaching all the children sign language and making sure everyone is included. #blogcrush

    Liked by 2 people

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